‘Is this the best we can do?’: B.C. mom of boy with muscular dystrophy calls for rare disease strategy

Kasha Mitton, a Kamloops nurse, knew something wasn’t right when her son Jude was delayed in crawling and then walking.

When he was four years old, he was diagnosed with Duchenne muscular dystrophy, a rare genetic disorder that weakens the muscles and usually targets boys.

“It’s taking away Jude’s muscle strength, and will eventually affect his heart and respiratory function,” said Mitton, who is also a clinical counsellor with a practice in Kamloops that helps families navigate chronic illness.

Mitton is in Vancouver this week to speak at a regenerative medicine conference called the Till & McCulloch Meetings, which brings together leading scientists from across Canada and the world. She’s advocating for a national rare disease strategy so that kids with rapidly deteriorating disease can access approved drugs that aren’t yet accessible because of provincial funding assessment delays.

Now 14 years old, Jude can no longer walk, which means he has fewer opportunities to join clinical trials as scientists typically want Duchenne patients to be ambulatory, says Mitton. Since there is no cure, trials have been Jude’s only access to treatment.

Jude was taking part in a trial for vamorolone, a steroidal drug that is already available in other countries. The family liked it because it has fewer side-effects than other drugs, like prednisone, which can cause weight gain, sleep issues and mood changes.

Vamorolone was eventually approved by the federal government — the first treatment for Duchenne approved in Canada — but the Mittons still don’t have access to it. While the drug became commercially available in April, it isn’t available for families in B.C. because it’s still going through the funding approval process.

Milton said it’s frustrating that the only way they can access a drug that’s been approved for years in other countries is by taking it during a clinical trial.

“We don’t have time to wait. Time is muscle,” she said.

In the meantime, the family has been taking part in another trial for a different drug, givinostat, that could reduce inflammation and protect the muscles. Choosing to take part in that new trial wasn’t easy. Jude was still involved in the trial for the other drug at the time, and the family had to make a difficult choice: Stay the course or abandon a drug showing promise to go on another trial?

“We’re watching the carrots getting dangled, going, ‘Oh, should we jump ship?’ But as soon as you jump off one, you are not allowed back on the other one,” said Mitton.

Only 60 per cent of treatments for rare disorders make it into Canada and most get approved up to six years later than the U.S., according to the Canadian Organization for Rare Disorders. The organization says Canada’s approach to rare diseases is fragmented across the country, which means families with rare illnesses are facing extraordinary challenges. These include misdiagnosis, unnecessary surgeries, social isolation, financial hardship, lack of treatment options and early death.